A3

Question 1

Two types of mutations located in the signal sequence of [x] are linked to Diabetes. In the one case the mutations perturb the interaction of the precursor protein with the [y] complex in the ER membrane and half of the newly made protein is not translocated. In the second case the protein is correctly translocated across the membrane but it does not [z] correctly inside the ER lumen.

Answer 1

x = insulin
y = Sec61
fold

Question 2

The molecular basis for chylomicron retention disease is:

Answer 2

A mutation in Sar1

Question 3

The aggregation prone Aβ peptide is produced by proteolytic cleavage of the amyloid precursor protein that occurs after the protein has been internalised and delivered to the?

Answer 3

endosome

Question 4

Which diseases can be linked to the quality control function of the endoplasmic reticulum that retains misfolded proteins?

Answer 4

alpha 1-antritypsin deficiency
cystic fibrosis
familial hypercholesterolaemia

Question 5

The inherited metabolic disorder lactic acidosis can be caused by a mutation in the mitochondrial [answer] of pyruvate dehydrogenase.

Answer 5

targeting signal